CSF3R
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.16668C>T
CDS: c.2302C>T
AnimoAcid: p.Gln768X		 Substitutions Direct sequencing Germeshausen M et al., 2005
2 Substitutions Genomic: g.16668C>T
CDS: c.2302C>T
AnimoAcid: p.Gln768X		 Substitutions Direct sequencing, Restriction enzyme analysis Dong F et al., 1995
3 Substitutions Genomic: g.16707C>T
CDS: c.2341C>T
AnimoAcid: p.Gln781X		 Substitutions Direct sequencing, Restriction enzyme analysis Dong F et al., 1995
4 Substitutions Genomic: g.16668C>T
CDS: c.2302C>T
AnimoAcid: p.Gln768X		 Substitutions Direct sequencing Carlsson G et al., 2006
5 Substitutions Genomic: g.16707C>T
CDS: c.2341C>T
AnimoAcid: p.Gln781X		 Substitutions Direct sequencing Carlsson G et al., 2006
6 Substitutions Genomic: g.16620C>T
CDS: c.2254C>T
AnimoAcid: p.Gln752X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
7 Substitutions Genomic: g.16808T>G
CDS: c.2442T>G
AnimoAcid: p.Tyr814X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
8 Substitutions Genomic: g.16662C>T
CDS: c.2296C>T
AnimoAcid: p.Gln766X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
9 Substitutions Genomic: g.16674C>T
CDS: c.2308C>T
AnimoAcid: p.Gln770X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
10 Substitutions Genomic: g.16635C>T
CDS: c.2269C>T
AnimoAcid: p.Gln757X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
11 Substitutions Genomic: g.16703C>T
CDS: c.2337C>T
AnimoAcid: p.Tyr779X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
12 Substitutions Genomic: g.16707T>G
CDS: c.2341T>G
AnimoAcid: p.Gln781X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
13 Substitutions Genomic: g.16628T>A
CDS: c.2262T>A
AnimoAcid: p.Tyr754X		 Substitutions Direct sequencing, PCR based assay Germeshausen M et al., 2009
14 Deletion Genomic: g.11036delG
CDS: c.956delG
AnimoAcid: p.Ser319ThrfsX9		 Deletion Direct sequencing, PCR based assay Druhan LJ et al., 2005
15 Deletion Genomic: g.11044_11742del
CDS: c.964_1145del
AnimoAcid: p.Ser322GlyfsX30		 Deletion PCR based assay Sinha S et al., 2003
16 Substitutions Genomic: g.10641C>A
CDS: c.686C>A
AnimoAcid: p.Pro229His		 Substitutions Direct sequencing, PCR based assay Ward AC et al., 1999